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GTR Home > Tests > Craniofacial Panel


Test name


Craniofacial Panel

Purpose of the test


This is a clinical test intended for Help: Mutation Confirmation, Monitoring, Risk Assessment, Pre-symptomatic, Diagnosis, Screening



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Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Wilkie, A.O. and G.M. Morriss-Kay, Genetics of craniofacial development and malformation. Nat Rev Genet, 2001. 2(6): p. 458-68. 2. Kimonis, V., et al., Genetics of craniosynostosis. Semin Pediatr Neurol, 2007. 14(3): p. 150-61. 3. Janssen, A., et al., Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. Am J Med Genet A, 2013. 161(9): p. 2352-7. 4. Sharma, V.P., et al., Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet, 2013. 45(3): p. 304-7. 5. Twigg, S.R., et al., Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet, 2013. 45(3): p. 308-13. 6. Twigg, S.R., et al., Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet, 2009. 84(5): p. 698-705. 7. Kayserili, H., et

Clinical validity


Not provided

Test services

  • Confirmation of research findings
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom mutation-specific/Carrier testing
  • Custom Prenatal Testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.